Canonical Allele Identifier: CA483160897

Gene: SACS

Linked Data

• ClinVar Variation Id: 1591749
• ClinVar RCV Id: RCV002107757
• dbSNP Id: rs1199675216
• gnomAD v2: 13-23910959-T-A
• gnomAD v4: 13-23336820-T-A
• MyVariant Identifiers: chr13:g.23910959T>A (hg19) ; chr13:g.23336820T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23336820T>A , CM000675.2:g.23336820T>A	GRCh38
NC_000013.10:g.23910959T>A , CM000675.1:g.23910959T>A	GRCh37
NC_000013.9:g.22808959T>A	NCBI36
NG_012342.1:g.101883A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682775.1:c.2185+16965A>T	ENSP00000508399.1:n.2185+16965A>T
ENST00000682944.1:c.7083A>T	ENSP00000507173.1:p.Ala2361=
ENST00000683210.1:c.2185+16965A>T	ENSP00000506739.1:n.2185+16965A>T
ENST00000683270.1:c.6445+602A>T	ENSP00000507624.1:n.6445+602A>T
ENST00000683367.1:c.2177-7336A>T	ENSP00000507780.1:n.2177-7336A>T
ENST00000683489.1:c.2291+4765A>T	ENSP00000508403.1:n.2291+4765A>T
ENST00000683680.1:c.2318+4765A>T	ENSP00000507223.1:n.2318+4765A>T
ENST00000684163.1:c.2204-7336A>T	ENSP00000508262.1:n.2204-7336A>T
ENST00000684196.1:n.4543-7336A>T
ENST00000684325.1:c.2186-15146A>T	ENSP00000508121.1:n.2186-15146A>T
ENST00000684385.1:c.2221-7336A>T	ENSP00000507855.1:n.2221-7336A>T
ENST00000684497.1:c.2186-14176A>T	ENSP00000507057.1:n.2186-14176A>T
ENST00000382292.9:c.7056A>T MANE Select	ENSP00000371729.3:p.Ala2352=
ENST00000423156.2:c.2186-7336A>T	ENSP00000390925.2:n.2186-7336A>T
ENST00000455470.6:c.2431+4625A>T	ENSP00000406565.2:n.2431+4625A>T
ENST00000382292.7:c.7056A>T	ENSP00000371729.3:p.Ala2352=
ENST00000382298.7:c.7056A>T	ENSP00000371735.3:p.Ala2352=
ENST00000402364.1:c.4806A>T	ENSP00000385844.1:p.Ala1602=
ENST00000423156.1:c.1058-7336A>T	ENSP00000390925.1:n.1058-7336A>T
ENST00000455470.5:c.2129+4625A>T
NM_001278055.1:c.6615A>T	NP_001264984.1:p.Ala2205=
NM_014363.5:c.7056A>T	NP_055178.3:p.Ala2352=
XM_005266338.1:c.7083A>T	XP_005266395.1:p.Ala2361=
XM_011535038.1:c.7107A>T	XP_011533340.1:p.Ala2369=
XM_011535039.1:c.7074A>T	XP_011533341.1:p.Ala2358=
XM_005266338.2:c.7083A>T	XP_005266395.1:p.Ala2361=
XM_011535039.2:c.7074A>T	XP_011533341.1:p.Ala2358=
XM_017020539.1:c.7047A>T	XP_016876028.1:p.Ala2349=
XM_024449337.1:c.7083A>T	XP_024305105.1:p.Ala2361=
NM_014363.6:c.7056A>T MANE Select	NP_055178.3:p.Ala2352=
NM_001278055.2:c.6615A>T	NP_001264984.1:p.Ala2205=